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[先天性氯腹泻]

[Congenital chloride diarrhea].

作者信息

Bretscher D, Fricker H

出版信息

Schweiz Med Wochenschr. 1978 Jul 1;108(26):995-9.

PMID:663592
Abstract

Two siblings aged 18 months and 3 1/2 years with congenital chloride diarrhea are presented. This disease was first described by Gamble et al. and Darrow in 1945 and has not been observed to date in Switzerland. So far, 43 cases have been reported, half of them from Finland. The disease appears to be caused by an inborn defect of chloride transport across the mucous membranes of the distal ileum and colon. This defect leads to chronic liquid diarrhea. The clinical symptoms, diagnostic approach, and therapeutic problems and possibilities are discussed.

摘要

本文报告了两名患有先天性氯腹泻的兄弟姐妹,年龄分别为18个月和3岁半。这种疾病最早由甘布尔等人和达罗于1945年描述,迄今为止在瑞士尚未观察到。到目前为止,已报告43例,其中一半来自芬兰。该疾病似乎是由回肠末端和结肠黏膜氯转运的先天性缺陷引起的。这种缺陷导致慢性液体腹泻。文中讨论了临床症状、诊断方法以及治疗问题和可能性。

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